RD
Ruebena Dawes
University of Oxford
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · RNA Research and Splicing · Genomics and Phylogenetic Studies
0000-0003-2135-0117
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Education history is unavailable.
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Publications (14)
- A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome Save
- Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders Save
- Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores Save
- Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders Save
- De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Save
- Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease Save
- SpliceVault predicts the precise nature of variant-associated mis-splicing Save
- Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone. Save
- Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Save
- Pro-inflammatory dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders. Save
- Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality Save